Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disorder of vascular development. Common manifestations include epistaxis, telangiectasias and arteriovenous malformations (AVMs) in multiple organs. Most patients have deletions or missense mutations in the ENG or ACVRL1 gene respectively, significantly affecting endothelium homeostasis. We analyzed the ENG gene in five members of a Peruvian family affected by HHT. One novel mutation was found in exon four of the ENG gene c.408delA, at aminoacid residue 136. This mutation changes the subsequent reading frame producing an early stop at residue 162, preserving only one fourth of the normal protein of 658 aa. This mutation was found in the four affected members of family.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229872 | PMC |
| http://dx.doi.org/10.1590/1678-4685-GMB-2019-0126 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Engineering Yarrowia lipolytica for the production of β-carotene by carbon and redox rebalancing.
J Biol Eng
January 2025
Interdisciplinary Program in Bioengineering, Seoul National University, 1 Gwanak-Ro, Gwanak-Gu, Seoul, 08826, South Korea.
Background: β-Carotene is a natural product that has garnered significant commercial interest. Considerable efforts have been made to meet such demand through the metabolic engineering of microorganisms, yet there is still potential for improvement. In this study, engineering approaches including carbon and redox rebalancing were used to maximize β-carotene production in Yarrowia lipolytica.
View Article and Find Full Text PDFCurrent Concepts and Clinical Applications in Cartilage Tissue Engineering.
Tissue Eng Part A
January 2025
Department of Orthopaedics, Massachusetts General Brigham, Boston, MA, USA.
Cartilage injuries are extremely common in the general population, and conventional interventions have failed to produce optimal results. Tissue engineering (TE) technology has been developed to produce neocartilage for use in a variety of cartilage-related conditions. However, progress in the field of cartilage TE has historically been difficult due to the high functional demand and avascular nature of the tissue.
View Article and Find Full Text PDFPangenome mining of the Streptomyces genus redefines species' biosynthetic potential.
Genome Biol
January 2025
The Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Kongens Lyngby, 2800, Denmark.
Background: Streptomyces is a highly diverse genus known for the production of secondary or specialized metabolites with a wide range of applications in the medical and agricultural industries. Several thousand complete or nearly complete Streptomyces genome sequences are now available, affording the opportunity to deeply investigate the biosynthetic potential within these organisms and to advance natural product discovery initiatives.
Results: We perform pangenome analysis on 2371 Streptomyces genomes, including approximately 1200 complete assemblies.
Addressing genome scale design tradeoffs in Pseudomonas putida for bioconversion of an aromatic carbon source.
NPJ Syst Biol Appl
January 2025
The Joint BioEnergy Institute, Lawrence Berkeley National Laboratory, Emeryville, CA, 94608, USA.
Genome-scale metabolic models (GSMM) are commonly used to identify gene deletion sets that result in growth coupling and pairing product formation with substrate utilization and can improve strain performance beyond levels typically accessible using traditional strain engineering approaches. However, sustainable feedstocks pose a challenge due to incomplete high-resolution metabolic data for non-canonical carbon sources required to curate GSMM and identify implementable designs. Here we address a four-gene deletion design in the Pseudomonas putida KT2440 strain for the lignin-derived non-sugar carbon source, p-coumarate (p-CA), that proved challenging to implement.
View Article and Find Full Text PDFBiosynthesis of lactacystin as a proteasome inhibitor.
Commun Chem
January 2025
Graduate School of Engineering, Hokkaido University, N13-W8, Kita-ku, Sapporo, Hokkaido, 060-8628, Japan.
Lactacystin is an irreversible proteasome inhibitor isolated from Streptomyces lactacystinicus. Despite its importance for its biological activity, the biosynthesis of lactacystin remains unknown. In this study, we identified the lactacystin biosynthetic gene cluster by gene disruption and heterologous expression experiments.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!